Incidental Mutation 'IGL01911:Pomgnt2'
ID 179800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pomgnt2
Ensembl Gene ENSMUSG00000066235
Gene Name protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2
Synonyms Gtdc2, C85492
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01911
Quality Score
Status
Chromosome 9
Chromosomal Location 121810675-121825116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121811854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 309 (E309G)
Ref Sequence ENSEMBL: ENSMUSP00000149753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043011] [ENSMUST00000084743] [ENSMUST00000213773] [ENSMUST00000214511] [ENSMUST00000214533] [ENSMUST00000214536] [ENSMUST00000216669] [ENSMUST00000217610] [ENSMUST00000215084] [ENSMUST00000215990]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043011
SMART Domains Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 183 194 N/A INTRINSIC
Pfam:FAM198 220 544 1.3e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084743
AA Change: E309G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000095868
Gene: ENSMUSG00000066235
AA Change: E309G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 29 38 N/A INTRINSIC
Pfam:DUF563 162 395 1.7e-25 PFAM
low complexity region 462 475 N/A INTRINSIC
SCOP:d1f6fb2 482 580 6e-9 SMART
Blast:FN3 486 570 2e-49 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000213773
Predicted Effect probably benign
Transcript: ENSMUST00000214511
Predicted Effect probably benign
Transcript: ENSMUST00000214533
Predicted Effect probably benign
Transcript: ENSMUST00000214536
Predicted Effect probably benign
Transcript: ENSMUST00000216669
AA Change: E309G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217610
AA Change: E309G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215008
Predicted Effect probably benign
Transcript: ENSMUST00000215084
Predicted Effect probably benign
Transcript: ENSMUST00000215990
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 T C 1: 58,191,719 (GRCm39) F424L probably benign Het
Arhgap11a T C 2: 113,671,077 (GRCm39) T301A probably damaging Het
Atp9a C A 2: 168,495,481 (GRCm39) R575L probably damaging Het
Brca2 G A 5: 150,491,078 (GRCm39) D3088N probably damaging Het
Brd3 G A 2: 27,349,812 (GRCm39) T247I probably damaging Het
Btbd8 A G 5: 107,656,446 (GRCm39) H903R probably damaging Het
Cacna1i A G 15: 80,275,933 (GRCm39) N1908S probably benign Het
Ccdc40 A T 11: 119,122,797 (GRCm39) probably null Het
Cdyl T C 13: 36,047,226 (GRCm39) V389A probably damaging Het
Col28a1 A G 6: 8,014,963 (GRCm39) F814S probably damaging Het
Cstf3 T C 2: 104,476,976 (GRCm39) F149S probably damaging Het
Dglucy T C 12: 100,804,784 (GRCm39) Y122H probably damaging Het
Dram1 T C 10: 88,161,203 (GRCm39) D222G probably damaging Het
Ets2 G A 16: 95,512,802 (GRCm39) R96H probably damaging Het
Gm11563 T A 11: 99,549,527 (GRCm39) R76* probably null Het
Gm17093 A C 14: 44,758,277 (GRCm39) probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpi1 A T 7: 33,920,347 (GRCm39) V136D probably damaging Het
Hfm1 G A 5: 107,059,410 (GRCm39) T204M possibly damaging Het
Itgae T C 11: 73,006,963 (GRCm39) I403T probably damaging Het
Krt75 A T 15: 101,476,537 (GRCm39) D409E probably damaging Het
Limk2 T G 11: 3,305,340 (GRCm39) T76P probably benign Het
Mtus2 A T 5: 148,015,030 (GRCm39) M608L probably benign Het
Obscn C A 11: 58,899,421 (GRCm39) E979* probably null Het
Or52ab7 T G 7: 102,978,480 (GRCm39) F262L probably benign Het
P2rx7 C T 5: 122,796,831 (GRCm39) A166V probably damaging Het
Sbno2 A T 10: 79,905,458 (GRCm39) Y199* probably null Het
Setd2 C A 9: 110,446,499 (GRCm39) probably null Het
Slc66a1 A G 4: 139,028,384 (GRCm39) V186A probably benign Het
Vmn2r84 T A 10: 130,222,277 (GRCm39) I648F probably damaging Het
Vrtn C T 12: 84,696,980 (GRCm39) R577W probably benign Het
Znhit6 A G 3: 145,283,853 (GRCm39) probably benign Het
Other mutations in Pomgnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Pomgnt2 APN 9 121,812,191 (GRCm39) missense probably benign 0.03
IGL01943:Pomgnt2 APN 9 121,811,536 (GRCm39) missense probably benign 0.06
IGL02955:Pomgnt2 APN 9 121,811,956 (GRCm39) missense probably damaging 1.00
H8441:Pomgnt2 UTSW 9 121,811,650 (GRCm39) missense probably damaging 1.00
R0080:Pomgnt2 UTSW 9 121,811,326 (GRCm39) missense probably damaging 1.00
R0082:Pomgnt2 UTSW 9 121,811,326 (GRCm39) missense probably damaging 1.00
R0602:Pomgnt2 UTSW 9 121,811,339 (GRCm39) missense probably benign 0.02
R0715:Pomgnt2 UTSW 9 121,811,127 (GRCm39) missense probably damaging 1.00
R1491:Pomgnt2 UTSW 9 121,811,326 (GRCm39) missense probably damaging 1.00
R1908:Pomgnt2 UTSW 9 121,811,257 (GRCm39) missense possibly damaging 0.89
R1909:Pomgnt2 UTSW 9 121,811,257 (GRCm39) missense possibly damaging 0.89
R2041:Pomgnt2 UTSW 9 121,811,354 (GRCm39) missense probably benign 0.00
R4428:Pomgnt2 UTSW 9 121,811,320 (GRCm39) missense possibly damaging 0.71
R4578:Pomgnt2 UTSW 9 121,812,131 (GRCm39) missense probably damaging 1.00
R4910:Pomgnt2 UTSW 9 121,812,013 (GRCm39) missense probably benign 0.19
R4937:Pomgnt2 UTSW 9 121,811,620 (GRCm39) missense probably benign 0.05
R5409:Pomgnt2 UTSW 9 121,811,303 (GRCm39) missense possibly damaging 0.71
R6090:Pomgnt2 UTSW 9 121,811,863 (GRCm39) missense probably damaging 1.00
R6596:Pomgnt2 UTSW 9 121,811,320 (GRCm39) missense possibly damaging 0.71
R7152:Pomgnt2 UTSW 9 121,812,589 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07